Clinical and molecular spectrum of renal malformations in kabuki syndrome

Journal of Pediatrics

Volumn 163, Issue 3, 2013, Pages 742-746

  Courcet, Jean Benoît ^a   Faivre, Laurence ^a   Michot, Caroline ^b   Burguet, Antoine ^c   Perez Martin, Stéphanie ^a   Alix, Eudeline ^d   Amiel, Jeanne ^b   Baumann, Clarisse ^e   Cordier, Marie Pierre ^f   Cormier Daire, Valérie ^b   Delrue, Marie Ange ^g   Gilbert Dussardier, Brigitte ^h   Goldenberg, Alice ⁱ   Jacquemont, Marie Line ^j   Jaquette, Aurélia ^k   Kayirangwa, Honorine ^b   Lacombe, Didier ^g   Le Merrer, Martine ^b   Toutain, Annick ^l   Odent, Sylvie ^j   Moncla, Anne ^m   Pelet, Anna ^b   Philip, Nicole ^m   Pinson, Lucille ⁿ   Poisson, Sylvain ^b   Kim Han, Le Quan Sang ^b   Roume, Joelle ^o   Sanchez, Elodie ⁿ   Willems, Marjolaine ^b   Till, Marianne ^d   Vincent Delorme, Catherine ^p   Mousson, Christiane ^q   Vinault, Sandrine ^q   Binquet, Christine ^q   Huet, Frédéric ^a   Sarda, Pierre ⁿ   Salomon, Rémi ^r   Lyonnet, Stanislas ^b   Sanlaville, Damien ^d   Geneviève, David ⁿ   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Children's Hospital   (France)

^d UNIVERSITÉ LYON 1   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f Department of Genetics   (France)

^g University Hospital   (France)

^h POITIERS UNIVERSITY HOSPITAL   (France)

ⁱ HÔPITAL CHARLES NICOLLE   (France)

^j South Hospital   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l CHU BRETONNEAU   (France)

^m TIMONE HOSPITAL   (France)

ⁿ UNIV MONTPELLIER   (France)

^o Poissy Saint Germain en Laye Hospital   (France)

^p LILLE UNIVERSITY HOSPITAL   (France)

^q DIJON UNIVERSITY HOSPITAL   (France)

^r HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

eGFR; Estimated glomerular filtration rate; Kabuki syndrome; KS; Ultrasound; US

Indexed keywords

CREATININE;

ADOLESCENT; ADULT; AGENESIS; ARTICLE; CHILD; CREATININE BLOOD LEVEL; FEMALE; GENOTYPE; GLOMERULUS FILTRATION RATE; HUMAN; HYPOPLASIA; INFANT; KABUKI MAKEUP SYNDROME; KIDNEY FUNCTION; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; ULTRASOUND; URINARY TRACT MALFORMATION;

EGFR; ESTIMATED GLOMERULAR FILTRATION RATE; KABUKI SYNDROME; KS; ULTRASOUND; US;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CREATININE; DNA-BINDING PROTEINS; FACE; FEMALE; FRANCE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENOTYPING TECHNIQUES; GLOMERULAR FILTRATION RATE; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; INFANT; KIDNEY; MALE; NEOPLASM PROTEINS; NUCLEAR PROTEINS; RETROSPECTIVE STUDIES; VESTIBULAR DISEASES; YOUNG ADULT;

EID: 84882849258     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.02.032     Document Type: Article

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